PRRT2 mutation in Japanese children with benign infantile epilepsy

Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia

Wan‐Jin Chen, Yu Lin, Zhi‐Qi Xiong et al. · Nature Genetics · 2011 · 477 citations

Transcriptional Regulation, Mendelian Disorder, Genetic Disorder +6

Novel mutations in the Na⁺, K⁺‐ATPase pump gene <i>ATP1A2</i> associated with familial hemiplegic migraine and benign familial infantile convulsions

Kaate R. J. Vanmolkot, E. E. Kors, Jouke‐Jan Hottenga et al. · Annals of Neurology · 2003 · 357 citations

Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias

J.-L. Wang, Li Cao, Xinhua Li et al. · Brain · 2011 · 289 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +14

Benign familial neonatal‐infantile seizures: Characterization of a new sodium channelopathy

Samuel F. Berkovic, Sarah E. Heron, Lucio Giordano et al. · Annals of Neurology · 2004 · 276 citations

Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions

Hsien-Yang Lee, Yong Huang, Nadine Bruneau et al. · Cell Reports · 2012 · 262 citations · Full text